MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Autosomal recessive spastic paraplegia type 9B

ORPHA:447760Kr.
Autosomal recessive

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

ORPHA:95433Kr.
Autosomal recessive

Autosomal recessive spondylocostal dysostosis

ORPHA:2311Malf.
Autosomal recessive

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

ORPHA:401979Malf.
Autosomal recessive

Autosomal recessive syndromic cerebellar ataxia

ORPHA:98099Kat.
Autosomal recessive

Autosomal semi-dominant severe lipodystrophic laminopathy

ORPHA:280365Kr.
Semi-dominant

Autosomal spastic paraplegia type 18

ORPHA:209951Kr.
Autosomal dominant, Autosomal recessive

Autosomal spastic paraplegia type 30

ORPHA:101010Kr.
Autosomal dominant, Autosomal recessive

Autosomal spastic paraplegia type 58

ORPHA:397946Kr.
Autosomal dominant, Autosomal recessive

Autosomal spastic paraplegia type 72

ORPHA:401849Kr.
Autosomal dominant, Autosomal recessive

Autosomal systemic lupus erythematosus

ORPHA:300345Kr.
Autosomal dominant, Autosomal recessive

Autosomal thrombocytopenia with normal platelets

ORPHA:168629Ätl. subt.
Autosomal dominant, Autosomal recessive

Avian influenza

ORPHA:454836Kr.
Not applicable

Axenfeld anomaly

ORPHA:98978Morph.
Autosomal dominant

Axenfeld-Rieger syndrome

ORPHA:782Malf.
Autosomal dominant

Axial mesodermal dysplasia spectrum

ORPHA:1834Malf.

Axial spondylometaphyseal dysplasia

ORPHA:168549Kr.
Autosomal recessive

Aymé-Gripp syndrome

ORPHA:1272Malf.
Autosomal recessive

B-cell chronic lymphocytic leukemia

ORPHA:67038Kr.
Multigenic/multifactorial, Not applicable

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

ORPHA:567502Kr.
Autosomal dominant

B-cell non-Hodgkin lymphoma

ORPHA:171915Kat.

B-cell prolymphocytic leukemia

ORPHA:86852Kr.

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

ORPHA:585936Ätl. subt.

B-lymphoblastic leukemia/lymphoma with hypodiploidy

ORPHA:585942Ätl. subt.